ST3GAL3 gene related symptoms and diseases

All the information presented here about the ST3GAL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ST3GAL3 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Epileptic spasms	Uncommon - Between 30% and 50% cases
Hypsarrhythmia	Uncommon - Between 30% and 50% cases
Intellectual disability, profound	Uncommon - Between 30% and 50% cases
Encephalopathy	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ST3GAL3 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Infantile spasms
Epileptic encephalopathy
Seizures
Global developmental delay
Rarely - Less than 30% cases
Intellectual disability, moderate
Lissencephaly
Central hypotonia
Status epilepticus

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ST3GAL3 gene

Here you will find a list of rare diseases related to the ST3GAL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

WEST SYNDROME

Alternate names

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome, infantile spasm syndrome, x-linked 1, xmesid, west syndrome, x-linked, ohtahara syndrome, x-linked, infantile spasms, infantile epileptic-dyskinetic encephalopathy, issx1

Description

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

Most common symptoms of WEST SYNDROME

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Ataxia

More info about WEST SYNDROME

SOURCES: OMIM ORPHANET

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12

Intellectual disability
Intellectual disability, moderate

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12

SOURCES: OMIM MESH

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15

Seizures
Global developmental delay
Generalized hypotonia
Encephalopathy
Irritability

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15

SOURCES: OMIM

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid

More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET

Search interest in ST3GAL3

Potential gene panels for ST3GAL3 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

ST3GAL3 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ST3GAL3 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to ST3GAL3 gene

WEST SYNDROME

Alternate names

Description

Most common symptoms of WEST SYNDROME

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12

Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12; MRT12

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; EIEE15

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Search interest in ST3GAL3

Potential gene panels for ST3GAL3 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel

NGS Epilepsy/Seizure Panel Panel

Non-Specific Intellectual Disability Panel Panel

Early Infantile Epileptic Encephalopathy Panel Panel

Autosomal Recessive Non-Specific Intellectual Disability Panel Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

CHOP Epilepsy Panel Panel

Early infantile epileptic encephalopathy (NGS panel for 26 genes) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Early Infantile Epileptic Encephalopathy-15 and Intellectual Disability via ST3GAL3 Gene Sequencing with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Mental retardation, autosomal recessive type 12 Panel

Early infantile epileptic encephalopathy type 15 Panel

AllNeuro panel Panel

Epileptic Encephalopathy Panel Panel

Single gene testing ST3GAL3 Panel

Epilepsy Panel

Epileptic encephalopathies Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

Neurology: Sequencing Panel Panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

Intellectual Disability NGS Panel Panel

Essential Epilepsy NGS Panel Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

ST3GAL3 Panel

Epileptic Encephalopathy Panel Panel

Comprehensive Epilepsy Panel Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel

Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel

Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Panel